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Items: 3

1.

Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010). [from OMIM]

MedGen UID:
400622
Concept ID:
C1864826
Disease or Syndrome
2.

Widely spaced toes

An overall widening of the spaces between the digits. [from HPO]

MedGen UID:
369965
Concept ID:
C1969238
Finding
3.

Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006). [from OMIM]

MedGen UID:
78557
Concept ID:
C0265339
Disease or Syndrome

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